Genotype and phenotype correlations forSHANK3de novo mutations in neurodevelopmental disorders

Abstract
SHANK3 has been identified as the causative gene of 22q13.3 microdeletion syndrome phenotype. De novo mutations (DNMs) of SHANK3 were subsequently identified in patients with several neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia (SCZ), a Rett syndrome-like phenotype, and intellectual disability (ID). Although broad developmental phenotypes of these patients have been described in single studies, few...
Paper Details
Title
Genotype and phenotype correlations forSHANK3de novo mutations in neurodevelopmental disorders
Published Date
Dec 9, 2018
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